Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6213787C>T , CM000681.2:g.6213787C>T | GRCh38 |
| NC_000019.9:g.6213798C>T , CM000681.1:g.6213798C>T | GRCh37 |
| NC_000019.8:g.6164798C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005934.4:c.1418G>A MANE Select | NP_005925.2:p.Arg473Gln |
| ENST00000252674.9:c.1418G>A MANE Select | ENSP00000252674.6:p.Arg473Gln |
| NM_005934.3:c.1418G>A | NP_005925.2:p.Arg473Gln |
| ENST00000252674.8:c.1418G>A | ENSP00000252674.6:p.Arg473Gln |
| ENST00000585588.1:n.453G>A | |
| XM_011528021.1:c.1541G>A | XP_011526323.1:p.Arg514Gln |
| XM_011528022.1:c.1424G>A | XP_011526324.1:p.Arg475Gln |
| XM_011528023.1:c.1415G>A | XP_011526325.1:p.Arg472Gln |
| XM_017026819.2:c.1322G>A | XP_016882308.1:p.Arg441Gln |